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Neurological Disorders Associated with Deficiency of Glutamate Dehydrogenase
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Leigh's Syndrome:The Adult Form of Subacute Necrotizing Encephalomyelopathy with Predilection for the Brainstem
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Mystery Case: A 21-Year-Old Man with Visual Loss Following Marijuana Use
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Inherited Metabolic Diseases of the Nervous System, Infantile Gaucher Disease
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Intracranial Optic Nerve Enlargement in Infantile Krabbe Disease
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Neurological Findings in Aminoacylase 1 Deficiency
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Diffusion-Weighted Imaging and Proton MR Spectroscopy of White Matter Abnormalities in a Case of Phenylketonuria
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Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
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Neurological Presentation of Fabry's Disease in a 52 Year Old Man
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Follow-up of Nine Patients with Hurler Syndrome After Bone Marrow Transplantation
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Adult-Onset Krabbe's Disease in Siblings with Novel Mutations in the Galactocerebrosidase Gene
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Leigh Syndrome:Clinical Features and Biochemical DNA Abnormalities
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Canavan Disease:From Spongy Degeneration to Molecular Analysis
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Brain Imaging in Late-Onset CM2 Gangliosidosis
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Psychiatric Disturbances in Metachromatic Leukodystrophy
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Late Onset Globoid Cell Leukodystrophy
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Fucosidosis Revisited:A Review of 77 Patients
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Cerebrotendinous Xanthomatosis:Clinical and MRI Study (A Case Report)
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Acute Profound Dystonia in Infants with Glutaric Acidemia
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Late Onset of Distinct Neurologic Syndromes in Galactosemic Siblings
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Biotinidase Deficiency:Initial Clinical Features & Rapid Diagnosis
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Adult Type Neuronal Storage Disease with Neuraminidase Deficiency
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